Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32202 | 96829;96830;96831 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| N2AB | 30561 | 91906;91907;91908 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| N2A | 29634 | 89125;89126;89127 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| N2B | 23137 | 69634;69635;69636 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| Novex-1 | 23262 | 70009;70010;70011 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| Novex-2 | 23329 | 70210;70211;70212 | chr2:178543369;178543368;178543367 | chr2:179408096;179408095;179408094 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs763365622  |
-1.244 | 0.997 | N | 0.451 | 0.242 | 0.626750850435 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs763365622 |
-1.244 | 0.997 | N | 0.451 | 0.242 | 0.626750850435 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs763365622 |
-1.244 | 0.997 | N | 0.451 | 0.242 | 0.626750850435 | gnomAD-4.0.0 | 3.0984E-06 | None | None | None | None | I | None | 6.67485E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs755717335 |
-0.647 | 0.994 | N | 0.499 | 0.281 | 0.614299490926 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| V/L | rs755717335 |
-0.647 | 0.994 | N | 0.499 | 0.281 | 0.614299490926 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/L | rs755717335 |
-0.647 | 0.994 | N | 0.499 | 0.281 | 0.614299490926 | gnomAD-4.0.0 | 4.58555E-05 | None | None | None | None | I | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.18732E-05 | 0 | 0 |
| V/M | rs755717335 |
-0.622 | 0.999 | N | 0.706 | 0.325 | 0.666487349844 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1985 | likely_benign | 0.1763 | benign | -0.876 | Destabilizing | 0.997 | D | 0.451 | neutral | N | 0.504546712 | None | None | I |
| V/C | 0.7964 | likely_pathogenic | 0.7911 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/D | 0.5336 | ambiguous | 0.5323 | ambiguous | -0.294 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | I |
| V/E | 0.3202 | likely_benign | 0.3024 | benign | -0.376 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.52107639 | None | None | I |
| V/F | 0.2965 | likely_benign | 0.2933 | benign | -0.922 | Destabilizing | 0.999 | D | 0.687 | prob.delet. | None | None | None | None | I |
| V/G | 0.3143 | likely_benign | 0.3103 | benign | -1.057 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.512234876 | None | None | I |
| V/H | 0.6978 | likely_pathogenic | 0.6868 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| V/I | 0.0904 | likely_benign | 0.082 | benign | -0.532 | Destabilizing | 0.995 | D | 0.498 | neutral | None | None | None | None | I |
| V/K | 0.2906 | likely_benign | 0.2938 | benign | -0.526 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | I |
| V/L | 0.2908 | likely_benign | 0.2789 | benign | -0.532 | Destabilizing | 0.994 | D | 0.499 | neutral | N | 0.478873522 | None | None | I |
| V/M | 0.1912 | likely_benign | 0.1706 | benign | -0.461 | Destabilizing | 0.999 | D | 0.706 | prob.delet. | N | 0.512741855 | None | None | I |
| V/N | 0.3858 | ambiguous | 0.3696 | ambiguous | -0.306 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| V/P | 0.3125 | likely_benign | 0.3076 | benign | -0.612 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | I |
| V/Q | 0.3463 | ambiguous | 0.3498 | ambiguous | -0.567 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | I |
| V/R | 0.3052 | likely_benign | 0.3291 | benign | -0.032 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | I |
| V/S | 0.2992 | likely_benign | 0.2821 | benign | -0.807 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | I |
| V/T | 0.2235 | likely_benign | 0.1983 | benign | -0.787 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | I |
| V/W | 0.9062 | likely_pathogenic | 0.9067 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| V/Y | 0.6614 | likely_pathogenic | 0.6747 | pathogenic | -0.651 | Destabilizing | 0.999 | D | 0.727 | deleterious | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.